Monochorionic diamniotic twin with a Down syndrome in one of the fetuses

2020 ◽  
Author(s):  
O.V. Pribushenya , O.L. Zobikova , E.I. Golovataya et all
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Peripheral Blood Lymphocytes ◽  
Laser Coagulation ◽  
Buccal Epithelium ◽  
Ultrasound Scan ◽  
Internal Organs ◽  
Interphase Nuclei

A clinical observation of monochorionic diamniotic twins with discordance of cytogenetic and clinical manifestations of Down syndrome is presented. Pregnancy was complicated by feto-fetal transfusion syndrome at 17 weeks of gestation. An ultrasound scan revealed a ventriculomegaly in a donor. Laser coagulation of anastomoses was performed. Karyotype 46, XY was established in the recipient amniocytes. The pregnancy ended in childbirth at 33 weeks with newborn boys weighing 1789 and 2080g. One of the newborns (donor) had phenotypic signs of Down syndrome. When karyotyping peripheral blood lymphocytes of a child with clinical manifestations of Down syndrome, karyotype mos 47,XY,+21[12]/46,XY [88] was established, and a child with a normal phenotype was mos 47,XY,+21[14]/46,XY [86]. No malformations of internal organs were found. When analyzing the buccal epithelium by the FISH method, it was found that in all the analyzed interphase nuclei obtained from a child without clinical manifestations (recipient fetus), trisomy 21 was not detected. In 78% of the interphase nuclei of cells of a child with Down syndrome (fetus-donor), trisomy 21 was established. Thus, the presence of a clone of cells with trisomy 21 in the recipient is associated with twin chimerism.

scholarly journals A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations

2021 ◽  
Vol 15 (3-4) ◽  
pp. 78-91
Author(s):  
M. Yu. Bobylova ◽  
M. O. Abramov ◽  
A. V. Kovalskaya ◽  
A. A. Alikhanov ◽  
K. Yu. Mukhin
Keyword(s):  
Motor Development ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Chromosome 4 ◽  
Resonance Imaging ◽  
Chromosome 18 ◽  
Internal Organs ◽  
Chromosomal Disorder ◽  
Somatic Status ◽  
Severe Growth

We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18.

‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽  
2016 ◽  
Vol 6 (2) ◽  
pp. 235-248 ◽  
Author(s):  
Mel Y. Chen
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Historical Perspective ◽  
Early History ◽  
Present Moment ◽  
History Of ◽  
Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

scholarly journals Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey

2021 ◽  
Vol 33 ◽  
pp. 100769 ◽  
Author(s):  
Anke Hüls ◽  
Alberto C.S. Costa ◽  
Mara Dierssen ◽  
R. Asaad Baksh ◽  
Stefania Bargagna ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Research Society ◽  
The Uk

Clinical and laboratory features of the course of obstructive pyelonephritis in a patient with quantitative kidney abnormality

2021 ◽  
Vol 11 (2) ◽  
pp. 183-190
Author(s):  
Suleyman I. Suleymanov ◽  
Zieratsho A. Kadyrov ◽  
Oganes E. Dilanyan ◽  
Vladimir S. Ramishvili ◽  
Vladislav V. Musohranov ◽  
...  
Keyword(s):  
Renal Failure ◽  
Inflammatory Process ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Upper Urinary Tract ◽  
Diagnostic Screening ◽  
Complete Obliteration ◽  
Complicated Course ◽  
Clinically Significant ◽  
Obstructive Pyelonephritis

The kidney duplication is the most common abnormality of the urinary system. In most cases, this condition is an accidental finding on prenatal ultrasound or can be diagnosed when the first clinical manifestations occur. Abnormalities of the upper urinary tract can be detected when examining a patient with arterial hypertension, proteinuria, or renal failure. As an example of the complicated course of the inflammatory process in a patient with quantitative kidney abnormality, a clinical observation of the course of obstructive pyelonephritis against the background of complete obliteration of the lower third of the ureter with the formation of terminal changes in the upper half of the doubled kidney, which led to renovascular hypertension and clinically significant renal failure, is presented. The article describes the clinical manifestations of the disease, laboratory and diagnostic screening, as well as the stages of surgical treatment in a multidisciplinary hospital.

Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers

2021 ◽  
pp. 1-9
Author(s):  
Sushil Kumar Jaiswal ◽  
Ashok Kumar ◽  
Amit Kumar Rai
Keyword(s):  
Down Syndrome ◽  
Peripheral Blood ◽  
Trisomy 21 ◽  
Health Management ◽  
Chromosome 21 ◽  
Robertsonian Translocations ◽  
Significant Difference ◽  
And Control

Down Syndrome (DS) caused by trisomy 21 results in various congenital and developmental complications in children. It is crucial to cytogenetically diagnose the DS cases early for their proper health management and to reduce the risk of further DS childbirths in mothers. In this study, we performed a cytogenetic analysis of 436 suspected DS cases using karyotyping and fluorescent in situ hybridization. We detected free trisomies (95.3%), robertsonian translocations (2.4%), isochromosomes (0.6%), and mosaics (1.2%). We observed a slightly higher incidence of DS childbirth in younger mothers compared to mothers with advanced age. We compared the somatic aneuploidy in peripheral blood of mothers having DS children (MDS) and control mothers (CM) to identify biomarkers for predicting the risk for DS childbirths. No significant difference was observed. After induced demethylation in peripheral blood cells, we did not observe a significant difference in the frequency of aneuploidy between MDS and CM. In conclusion, free trisomy 21 is the most common type of chromosomal abnormality in DS. A small number of DS cases have translocations and mosaicism of chromosome 21. Additionally, somatic aneuploidy in the peripheral blood from the mother is not an effective marker to predict DS childbirths.

CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND FEVER (CANDLE SYNDROME) IN PEDIATRIC PRACTICE

2021 ◽  
Vol 100 (2) ◽  
pp. 254-261
Author(s):  
O.G. Sukhovjova ◽  
◽  
I.A. Ivanova ◽  
N.A. Kalugina ◽  
E.S. Zholobova ◽  
...  
Keyword(s):  
Clinical Observation ◽  
Clinical Manifestations ◽  
Maculopapular Rash ◽  
The Body ◽  
Neutrophilic Dermatosis ◽  
Inherited Disease ◽  
Laboratory Activity ◽  
Ubiquitinated Proteins ◽  
Systemic Inflammatory Reaction ◽  
Long Time

The purpose of this publication is to describe the CANDLE syndrome (its etiology, pathogenesis, clinical manifestations) and present a clinical observation. CANDLE syndrome is a rare genetically inherited disease caused by impaired assembly by of the protease, which leads to the accumulation of abnormal (ubiquitinated) proteins in B-lymphocytes, fibroblasts, macrophages and some other cells of the body. As a result, an excessive activation of interferon synthesis occurs and a systemic inflammatory reaction develops with symptoms such as febrile fever, skin syndrome, represented by nodules and maculopapular rash, hepatosplenomegaly, lipodystrophy, amyotrophy, delayed physical development, as well as high laboratory activity. The article describes a clinical observation of a female patient with typical symptoms of CANDLE syndrome. However, due to the rarity of the disease and lack of publications describing it, it has not been possible to diagnose the child for a long time.

OVERLAP NEUROLOGICAL SYNDROMES ASSOCIATED WITH ANTIBODIES TO GLUTAMIC ACID DECARBOXYLASE: CLINICAL OBSERVATION

2021 ◽  
Vol 100 (2) ◽  
pp. 284-287
Author(s):  
E.S. Druzhinina ◽  
◽  
R.T. Bembeeva ◽  
D.S. Druzhinin ◽  
U.M. Azizova ◽  
...  
Keyword(s):  
Glutamic Acid ◽  
Glutamic Acid Decarboxylase ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Overlap Syndrome ◽  
Guillain Barre Syndrome ◽  
Acid Decarboxylase ◽  
Pediatric Practice ◽  
Guillain Barré Syndrome ◽  
Guillain Barré

The article presents a description of an overlap syndrome, rare in pediatric practice, associated with antibodies to glutamic acid decarboxylase in a 4-year-old child, which was initially regarded as a variant of Guillain–Barré syndrome due to the similarity of clinical manifestations.

scholarly journals Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles

2020 ◽  
Author(s):  
Benjamin I Laufer ◽  
Hyeyeon Hwang ◽  
Julia M Jianu ◽  
Charles E Mordaunt ◽  
Ian F Korf ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Down Syndrome ◽  
Early Life ◽  
Trisomy 21 ◽  
Bisulfite Sequencing ◽  
Dried Blood Spots ◽  
Whole Genome ◽  
Genome Wide ◽  
Low Pass ◽  
Genome Bisulfite Sequencing

Abstract Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example of genetics shaping epigenetics, as multiple array-based studies have demonstrated that trisomy 21 is characterized by genome-wide alterations to DNA methylation. By assaying over 24 million CpG sites, thousands of genome-wide significant (q < 0.05) differentially methylated regions (DMRs) that distinguished DS from typical development and idiopathic developmental delay were identified. Machine learning feature selection refined these DMRs to 22 loci. The DS DMRs mapped to genes involved in neurodevelopment, metabolism, and transcriptional regulation. Based on comparisons with previous DS methylation studies and reference epigenomes, the hypermethylated DS DMRs were significantly (q < 0.05) enriched across tissues while the hypomethylated DS DMRs were significantly (q < 0.05) enriched for blood-specific chromatin states. A ~28 kb block of hypermethylation was observed on chromosome 21 in the RUNX1 locus, which encodes a hematopoietic transcription factor whose binding motif was the most significantly enriched (q < 0.05) overall and specifically within the hypomethylated DMRs. Finally, we also identified DMRs that distinguished DS NDBS based on the presence or absence of congenital heart disease (CHD). Together, these results not only demonstrate the utility of low-pass WGBS on NDBS samples for epigenome-wide association studies, but also provide new insights into the early life mechanisms of epigenomic dysregulation resulting from trisomy 21.

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